Turkish archives of pediatrics最新文献

{"title":"Familial Mediterranean Fever in Childhood.","authors":"Rabia Miray Kisla Ekinci, Elif Kilic Konte, Nergis Akay, Umit Gul","doi":"10.5152/TurkArchPediatr.2024.24188","DOIUrl":"10.5152/TurkArchPediatr.2024.24188","url":null,"abstract":"<p><p>Familial Mediterranean fever (FMF) is the most prevalent monogenic autoinflammatory disorder, characterized by recurrent fever and serositis. It primarily affects individuals of Mediterranean descent, including Arabs, Armenians, Turks, and Jews. The Mediterranean fever (MEFV) gene, responsible for FMF, was discovered in 1997. Biallelic pathogenic variants lead to excessive activation of the pyrin inflammasome, resulting in inflammation. Clinical manifestations include recurrent fever, abdominal pain, and joint involvement, with attacks typically lasting 12-72 hours. Diagnosis relies on clinical criteria and is supported by genetic testing. Colchicine is the primary treatment to reduce attack frequency and prevent the complications like renal amyloidosis. Despite advancements in understanding FMF, including its genetic basis and treatment options, challenges remain in distinguishing it from other autoinflammatory diseases. Co-existing conditions such as juvenile idiopathic arthritis and inflammatory bowel disease are common among FMF patients. Ongoing research should aim to clarify the development of the disease, enhance diagnostic accuracy, and address its clinical presentation and genetic variability, with a focus on identifying new genetic mutations and epigenetic factors that contribute to its pathogenesis.</p>","PeriodicalId":75267,"journal":{"name":"Turkish archives of pediatrics","volume":"59 6","pages":"527-534"},"PeriodicalIF":1.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11562618/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142632716","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Relationship between the Improvement Level in Blood Gas Parameters in Time and Brain MRI Findings in Newborns with the Diagnosis of Hypoxic Ischemic Encephalopathy.","authors":"Aslan Yilmaz, Abdulkerim Uygur, Barıs Celik, Ali Metin Akdag, Demet Baser, Sureyya Ipek Ozturk","doi":"10.5152/TurkArchPediatr.2024.24152","DOIUrl":"10.5152/TurkArchPediatr.2024.24152","url":null,"abstract":"<p><strong>Objective: </strong>In this study, we aimed to evaluate the relationship between the level of improvement in blood gas parameters in the first hours of age and normal and diffusion-restriction brain magnetic resonance imaging (MRI).</p><p><strong>Materials and methods: </strong>The study is a retrospective cohort study. Cases of the diagnosis of hypoxic-ischemic encephalopathy (HIE) who received therapeutic hypothermia in our unit between January 2022 and January 2024 were included in the study. Clinical findings, blood gas values (first, cord; second, first hours of age; third, 24th hour of age), and MRI results were recorded from the case files and compared between normal and diffusion-restricted brain MRI groups.</p><p><strong>Results: </strong>Diffusion-restricted brain MRI was detected in 10 out of a total of 19 cases. The 5-minute Apgar score was lower (p=0.038) and mechanical ventilator support was higher (P=.003) in the diffusion-restricted MRI group than in the normal MRI group. The relationship was shown between high base excess (P=.022) in cord blood gas, low HCO₃ (p=0.025) in the 24th hour blood gas, and convulsion (P=.033) in the diffusion-restricted MRI group. Additionally, it was found that only the improvement level of the pH value in the first hour of age was significant (P=.025) in the diffusion-restricted brain MRI group than in the normal MRI group.</p><p><strong>Conclusion: </strong>We showed that there was a relationship between diffusion-restricted brain MRI and the improvement level in the pH value in the first hours of age of patients diagnosed with HIE who received treatment for therapeutic hypothermia.</p>","PeriodicalId":75267,"journal":{"name":"Turkish archives of pediatrics","volume":"59 6","pages":"553-559"},"PeriodicalIF":1.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11562593/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142633257","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Diagnostic Utility of Diffusion-Weighted Imaging in Distinguishing Common Pediatric Posterior Fossa Tumors: A Single Center Retrospective Study.","authors":"Umur Anil Pehlivan, Elif Habibe Aktekin, Cigdem Yalcin, Bermal Hasbay, Aylin Gunesli, Ozlem Alkan","doi":"10.5152/TurkArchPediatr.2024.24154","DOIUrl":"10.5152/TurkArchPediatr.2024.24154","url":null,"abstract":"<p><strong>Objective: </strong>Pediatric posterior fossa tumors pose diagnostic challenges due to their diverse histopathological features and variable clinical presentations. Conventional magnetic resonance imaging (MRI) serves as the initial diagnostic tool; however, additional modalities, such as diffusion-weighted imaging (DWI), are essential for refining tumor classification. This retrospective single-center study aimed to evaluate the diagnostic utility of apparent diffusion coefficient (ADC) parameters in distinguishing between the most common pediatric posterior fossa tumors.</p><p><strong>Materials and methods: </strong>Fifty-nine patients under the age of 18 (27 females and 32 males) with histopathologically diagnosed primary posterior fossa tumors underwent pre-treatment conventional and diffusion MRI. Apparent diffusion coefficient values were measured from solid tumor regions and normal cerebellar parenchyma, with subsequent calculation of tumor/normal cerebellar ADC ratios.</p><p><strong>Results: </strong>The median ADC values for pilocytic astrocytomas (PAs) were 1786.2 × 10-6 mm2 /s, ependymomas 1144.9 × 10-6 mm2 /s, and for medulloblastomas 666.1 × 10-6 mm2 /s were significantly different (P < .001 for all three). Similarly, the median ADC ratios demonstrated discriminatory potential, with PAs showing the highest ratio (2.46), followed by ependymomas (1.55) and medulloblastomas (0.89) (P < .001 for all three). Receiver operating characteristic analysis revealed distinct ADC cutoffs and ratios for differentiating all tumor types from each other.</p><p><strong>Conclusion: </strong>Despite limitations, such as a small cohort size and different MRI protocols, our results show that ADC metrics are especially useful for distinguishing between the most common pediatric posterior fossa tumors. We recommend that future studies integrate advanced imaging techniques and larger cohorts to improve diagnostic accuracy.</p>","PeriodicalId":75267,"journal":{"name":"Turkish archives of pediatrics","volume":"59 6","pages":"560-566"},"PeriodicalIF":1.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11562144/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142632725","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical Presentation of Cat Scratch Disease in Pediatric Patients-A Single-Center Study.","authors":"Sevliya Öcal-Demir, Kaan Kahraman, Gülçin Bozbeyoğlu, Fehim Esen","doi":"10.5152/TurkArchPediatr.2024.24032","DOIUrl":"10.5152/TurkArchPediatr.2024.24032","url":null,"abstract":"<p><strong>Objective: </strong>Cat scratch disease (CSD) is the infectious disease caused by Bartonella henselae. Its typical presentation is regional lymphadenopathy. Also it may present with symptoms related to involved organs or disseminated disease with fever of unknown origin (FUO). Here children with CSD are evaluated to increase awareness about disease.</p><p><strong>Materials and methods: </strong>A total of 29 children diagnosed with CSD between 2019 and 2022 were involved in the study. Patients' demographic characteristics, clinical, laboratory and radiological findings, treatments, and outcomes were analyzed.</p><p><strong>Results: </strong>Seventeen of the patients were male, 12 were female, and their mean age was 116.5 ± 51 months. About 69.6% of them had a history of cat contact. Twenty-seven patient (93.1%) had lymphadenopathy, mostly axillary involved (61.5%). Other manifestations were disseminated disease presented with FUO, neuroretinitis, and encephalopathy. Twenty-seven patients (93.1%) had received antibiotics before admission without any improvement. Ultrasound showed that the affected lymph nodes were conglomerated, lobulated contoured, and cortical thickened, with one-third having cystic suppurative components. Serologic tests were positive in 24 of 27 patients. Twenty-one patients gave response to 5 days azithromycin treatment, in 8 patients this treatment extended to 10-14 days, rifampicin with/without doxycycline was given to 6 patients, and steroids were given to 3 patients.</p><p><strong>Conclusion: </strong>In case of regional lymphadenopathy, especially axillary, not responding to nonspecific antibiotics CSD should be suspected. Cat contact history and serological and ultrasonographic findings are useful for diagnosis. Even if CSD responds well to azithromycin, sometimes prolongation of azithromycin and addition of other antibiotic or steroid may be required.</p>","PeriodicalId":75267,"journal":{"name":"Turkish archives of pediatrics","volume":"59 6","pages":"574-579"},"PeriodicalIF":1.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11562607/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142634606","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Call for Fair Access to Continuous Glucose Monitoring Systems in Türkiye.","authors":"Sukru Hatun, Gul Yesiltepe Mutlu","doi":"10.5152/TurkArchPediatr.2024.24136","DOIUrl":"10.5152/TurkArchPediatr.2024.24136","url":null,"abstract":"","PeriodicalId":75267,"journal":{"name":"Turkish archives of pediatrics","volume":"59 6","pages":"608-609"},"PeriodicalIF":1.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11562589/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142634602","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Abdominal Lymphatic Malformation Misdiagnosed as Ascites: A Case Report and Review of Literature.","authors":"Shohreh Maleknejad, Amir Pirooz, Bahram Darbandi, Nasrin Sedighi-Pirsaraei, Amirhossein Tamimi, Kosar Namakin, Atena Tamimi, Naser Dehghani","doi":"10.5152/TurkArchPediatr.2024.24096","DOIUrl":"10.5152/TurkArchPediatr.2024.24096","url":null,"abstract":"","PeriodicalId":75267,"journal":{"name":"Turkish archives of pediatrics","volume":"59 6","pages":"591-594"},"PeriodicalIF":1.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11562616/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142634589","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"An Unusual Initial Presentation of Temporal Bone Ewing's Sarcoma: Cranial Nerve Palsy.","authors":"Abdullah Ağın, Ata Baytaroglu, Irem Koc, Hande Taylan Sekeroglu","doi":"10.5152/TurkArchPediatr.2024.24059","DOIUrl":"10.5152/TurkArchPediatr.2024.24059","url":null,"abstract":"","PeriodicalId":75267,"journal":{"name":"Turkish archives of pediatrics","volume":"59 6","pages":"599-602"},"PeriodicalIF":1.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11562100/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142634593","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Prognosis of Idiopathic Premature Ventricular Beats in Children with Structurally Normal Hearts.","authors":"Kürşat Çetin, Filiz Ekici, Fırat Kardelen, Muhammet Bulut, Şenay Akbay","doi":"10.5152/TurkArchPediatr.2024.24075","DOIUrl":"10.5152/TurkArchPediatr.2024.24075","url":null,"abstract":"<p><strong>Objective: </strong>The objective of this study is to evaluate the prognosis of idiopathic premature ventricular beats (PVBs) in children.</p><p><strong>Materials and methods: </strong>We retrospectively evaluated 73 children (<18 years old) with idiopathic PVBs and structurally normal hearts. All patients were evaluated by 24-hour Holter electrocardiography (ECG) and echocardiography at the first admission and followed with a mean of 27 ± 7.6 months after diagnosis. Baseline Holter ECG and echocardiographic findings were compared to the last visit.</p><p><strong>Results: </strong>The mean age of the patients was 11.1 ± 4.8 years, and half were symptomatic at initial examination. Baseline Holter showed complex beats in 35 cases, non-sustained ventricular tachycardia in 7 cases, and frequent PVBs in 19 cases. Complete recovery (CR) of PVBs was observed in 37 cases (50.7%) at a median of 15 (minimum: 5, maximum: 33) months after diagnosis. There were no significant differences in CR rates between patient groups with left bundle branch block (LBBB) vs. right bundle branch block (RBBB) morphology of PVBs, simple vs. complex PVBs, and daytime vs. nighttime dominance of PVBs (P > .05 for all parameters). The CR rate of PVBs was different among patients with infrequent, moderate, and frequent PVBs (62.8%, 36.4%, and 31.6%, respectively). Premature ventricular beats disappeared more often during follow-up in patients with infrequent PVBs (P = .045). However, the absolute decrease and disappearance rates of PVBs were similar across all groups (72.1%, 81.8%, and 89.5%, respectively; P = .319). The resolution rates of PVBs were not statistically different between the patient group who received pharmacological treatment and the group who followed up without treatment (P = .070). No myocardial dysfunction was observed in any patient during follow-up. No cases experienced major cardiac events.</p><p><strong>Conclusion: </strong>Idiopathic PVBs usually regress in childhood regardless of frequency and complexity or receiving antiarrhythmic medication. The risk of ventricular dysfunction is low during childhood; however, they require careful evaluation and follow-up.</p>","PeriodicalId":75267,"journal":{"name":"Turkish archives of pediatrics","volume":"59 6","pages":"535-542"},"PeriodicalIF":1.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11562101/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142633209","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Gut Microbiota Alterations in Autism Spectrum Disorder.","authors":"Annio Posar, Paola Visconti","doi":"10.5152/TurkArchPediatr.2024.24086","DOIUrl":"https://doi.org/10.5152/TurkArchPediatr.2024.24086","url":null,"abstract":"","PeriodicalId":75267,"journal":{"name":"Turkish archives of pediatrics","volume":"59 5","pages":"506-507"},"PeriodicalIF":1.3,"publicationDate":"2024-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11391233/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142514405","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Investigation of Physical Fitness in Children and Adolescents with Juvenile Idiopathic Arthritis: A Case-Control Study.","authors":"Sinem Bozcuk, Bilge Basakcı Calık, Elif Gur Kabul, Zahide Ekici Tekin, Selçuk Yüksel","doi":"10.5152/TurkArchPediatr.2024.24103","DOIUrl":"https://doi.org/10.5152/TurkArchPediatr.2024.24103","url":null,"abstract":"<p><p>Swelling, effusion, tenderness, and pain seen in the joints of juvenile idiopathic arthritis (JIA). This disease may cause limitation in joint movements, muscle weakness, atrophy, balance, and gait disorders. Physical fitness is accepted as an important determinant of health in both childhood and adolescence. The aim was to evaluate the physical fitness of children/adolescents with JIA and compare it with healthy peers. Seventy children/adolescents were included (35 JIA and 35 healthy). The Childhood Health Assessment Questionnaire (CHAQ) and the Brockport physical fitness test battery were used for evaluation. The Brockport physical fitness test battery consists of dominant handgrip strength, curl-up, push-up, trunk lift, shoulder stretch, sit and reach tests, skinfold thickness (calf/triceps/subscapular) measurements, and PACER 20 m test. A significant difference was found in all sub-parameters of CHAQ (P < .05) and dominant hand grip strength (P = .037), curl-up test (P < .001), trunk lift test (P = .018), shoulder stretch (P < .001) and PACER 20 m test (P < .001) tests in favor of the healthy group. Children/adolescents with JIA demonstrated lower performance compared to their healthy peers in muscular and cardiovascular capacity tests (curl-up test, PACER 20 m test, trunk lift test, dominant hand grip strength test, and shoulder stretch test). Their functional abilities are more impaired, and they experience higher levels of pain and lower levels of general well-being compared to healthy peers.</p>","PeriodicalId":75267,"journal":{"name":"Turkish archives of pediatrics","volume":"59 5","pages":"488-493"},"PeriodicalIF":1.3,"publicationDate":"2024-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11391237/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142514407","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}